Varaico: Literature-Extracted Genetic Variants

TP53

19,071 papers

RefSeq Summary

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expr...

Pfam Domains

P53_TADaa 6–30UCSCP53 transactivation motif

TAD2aa 35–59UCSCTransactivation domain 2

P53aa 99–289UCSCP53 DNA-binding domain

P53_tetrameraa 319–358UCSCP53 tetramerisation motif

Gene Aliases

HGNC Name

tumor protein p53

HGNC Alias Symbols

p53; LFS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_000546.6

p.R248delFs

c.742delG

Surrounding Variants

300 papers

NM_000546.6

p.R248L

c.743G>T

1 paper

NM_000546.6

p.R248insFs

c.743_744ins5

1 paper

NM_000546.6

p.N247insFs

c.741dupC

109 papers

NM_000546.6

p.R248P

c.743G>C

NM_001276698.3

p.R89P

c.266G>C

2453 papers

NM_000546.6

p.R248Q

c.743G>A

NM_001126118.2

p.R209Q

c.626G>A

NM_001126115.2

p.R116Q

c.347G>A

NM_001276697.3

p.R89Q

c.266G>A

1 paper

NM_000546.6

p.R248delins

c.742_743delinsTT

1 paper

NM_000546.6

p.M246_R248delFs

c.736_742del7

1 paper

NM_000546.6

p.R248R

c.744G>T

7 papers

NM_000546.6

p.R248fs

c.742_743fs

1 paper

NM_000546.6

p.R248R

c.744G>C

2 papers

NM_000546.6

p.R248R

c.744G>A

4 papers

NM_000546.6

p.R248delins

c.743_744delinsTT